IRF2BPL and Brain atrophy: As previously reported, the clinical features of IRF2BPL mutation include various epileptic syndrome, growth retardation, brain atrophy shown by neuroimaging and abnormal EEG.[4–6] It has been reported that turning off the distal gene mutation of the C-terminal RING finger of IRF2BPL protein may lead to more severe phenotype.[9] At the same time, some studies have shown that IRF2BPL/Pits plays a role in down-regulating Wnt signal transduction in the nervous system.[20] However, our patients are characterized by NEDAMSS and autism, and the mutation may be farther away from the distal end.